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De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.
Am J Med Genet A. 2010 Oct;152A(10):2437-43. doi: 10.1002/ajmg.a.33657.
Am J Med Genet A. 2010.
PMID: 20734336
Free PMC article.
Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.
LeMaire SA, McDonald ML, Guo DC, Russell L, Miller CC 3rd, Johnson RJ, Bekheirnia MR, Franco LM, Nguyen M, Pyeritz RE, Bavaria JE, Devereux R, Maslen C, Holmes KW, Eagle K, Body SC, Seidman C, Seidman JG, Isselbacher EM, Bray M, Coselli JS, Estrera AL, Safi HJ, Belmont JW, Leal SM, Milewicz DM.
LeMaire SA, et al.
Nat Genet. 2011 Sep 11;43(10):996-1000. doi: 10.1038/ng.934.
Nat Genet. 2011.
PMID: 21909107
Free PMC article.
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